Hitchins Laboratory

 
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  • Training: Ph.D in Clinical Genetics (UCL, London, UK)
  • Last position: Associate Professor, Stanford University
  • Cancer Research Focus: Translational
    • Germline genetic and epigenetic risk factors in cancer predisposition (mostly high-risk setting) & inheritance
    • Discovery of, and clinical testing of, DNA methylation biomarkers of cancer for the detection of circulating tumor DNA (ctDNA) for cancer screening (early diagnosis) and monitoring of cancer burden/treatment
 
 

Research Projects Underway:

  • Identification and clinical testing of methylated DNA biomarkers for the detection of ctDNA in plasma: Early diagnosis & monitoring for cancer progression/response to treatment
  • Identification of unusual causes for cancer predisposition in high-risk groups - typically in patients/families who received negative/uninformative/limited CLIA-approved genetic test results (germline mutation, SVs, epimutation, VUS reclassification)
  • Modes of intergenerational inheritance/erasure of altered constitutional epigenetic states (e.g. MLH1 “epimutation”) – which can be Mendelian and non-Mendelian
    • Amend current universal screening algorithms for colorectal and endometrial cancer to routinely identify cases with “epimutation” as the cause of their mismatch repair deficiency
    • Mechanistic basis: currently using linked-read WGS (Chromium/10X Genomics) to identify cis/trans SNVs, SVs, and retroelement mobilization as potential underlying mechanisms.

 

Frequently used Wet-lab Techniques

  • WGBS, SureSelect (deep MethylSeq), Infinium HM arrays, targeted bisulphite sequencing (NGS or clonal), ChIP, promoter reporter
  • Targeted Pyrosequencing (detection & quantification of hot-spot mutations, CpG methylation, allelic expression, CNV, LOH). Applications: verification, molecular diagnostics, particularly robust for FFPE tissue samples
  • Sensitive real-time PCR/droplet to detect low-levels of specific mutations, alleles, or methylation (qMSP, MethyLight, MethylHeavy). Applications: Detection of ctDNA in plasma, mosaicism
 

TEAM MEMBERS

 
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Rosie Alvarez, Lab Manager/ Research Associate III -Center for Bioinformatics and Functional Genomics at Cedar-Sinai Medical Center (rocio.alvarez@cshs.org)

She joined the lab in January 2018. She received a master's degree in Chemistry from CalState Univeristy, Los Angeles. She has experience with molecular biology both in vitro - in vivo systems.